DEPDC1B

Summary

DEPDC1B (DEP domain containing 1B, HGNC:24902) is a protein-coding gene on chromosome 5q12.1, encoding DEP domain-containing protein 1B (Q8WUY9).

Predicted to enable GTPase activator activity. Involved in cell migration and positive regulation of Wnt signaling pathway.

Source: NCBI Gene 55789 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 107 total — 6 pathogenic
• MANE Select transcript: NM_018369

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24902
Approved symbol	DEPDC1B
Name	DEP domain containing 1B
Location	5q12.1
Locus type	gene with protein product
Status	Approved
Aliases	XTP1, BRCC3
Ensembl gene	ENSG00000035499
Ensembl biotype	protein_coding
OMIM	616073
Entrez	55789

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000265036, ENST00000453022, ENST00000505017, ENST00000509006, ENST00000512078, ENST00000512452, ENST00000871249, ENST00000927125, ENST00000927126, ENST00000927127, ENST00000927128

RefSeq mRNA: 2 — MANE Select: NM_018369 NM_001145208, NM_018369

CCDS: CCDS3977, CCDS47214

Canonical transcript exons

ENST00000265036 — 11 exons

Exon	Start	End
ENSE00000747311	60599075	60599260
ENSE00001838018	60700046	60700166
ENSE00001953422	60596912	60597914
ENSE00003480562	60638750	60638890
ENSE00003540171	60647398	60647533
ENSE00003542554	60642812	60642859
ENSE00003594989	60686962	60687227
ENSE00003605011	60603391	60603567
ENSE00003628275	60605690	60605856
ENSE00003628389	60645492	60645619
ENSE00003668319	60644745	60644875

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 96.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4289 / max 136.6362, expressed in 1268 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61892	10.0485	1259
61893	0.3804	225

Top tissues by expression

248 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.18	gold quality
oocyte	CL:0000023	93.95	gold quality
ventricular zone	UBERON:0003053	91.97	gold quality
gall bladder	UBERON:0002110	90.16	gold quality
ganglionic eminence	UBERON:0004023	88.70	gold quality
embryo	UBERON:0000922	88.69	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.08	gold quality
placenta	UBERON:0001987	86.75	gold quality
thymus	UBERON:0002370	84.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.99	gold quality
bone marrow	UBERON:0002371	80.08	gold quality
bone marrow cell	CL:0002092	77.80	gold quality
trabecular bone tissue	UBERON:0002483	77.68	gold quality
rectum	UBERON:0001052	76.66	gold quality
mucosa of transverse colon	UBERON:0004991	75.79	gold quality
jejunal mucosa	UBERON:0000399	75.01	gold quality
adrenal tissue	UBERON:0018303	74.49	gold quality
duodenum	UBERON:0002114	74.07	gold quality
vermiform appendix	UBERON:0001154	73.19	gold quality
sural nerve	UBERON:0015488	72.46	gold quality
testis	UBERON:0000473	72.43	gold quality
cortical plate	UBERON:0005343	72.03	gold quality
stromal cell of endometrium	CL:0002255	71.92	gold quality
right testis	UBERON:0004534	71.70	gold quality
left testis	UBERON:0004533	71.53	gold quality
amniotic fluid	UBERON:0000173	71.00	gold quality
lymph node	UBERON:0000029	70.87	gold quality
ileal mucosa	UBERON:0000331	69.78	gold quality
esophagus mucosa	UBERON:0002469	68.29	gold quality
lower esophagus mucosa	UBERON:0035834	67.56	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	191.40
E-ANND-3	yes	5.05
E-MTAB-6911	no	266.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting DEPDC1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549

Literature-anchored findings (GeneRIF, showing 21)

• Taken together, our data demonstrate that DEPDC1B might confer metastasis-related malignant phenotype to NSCLC in a Wnt/beta-catenin dependent manner, providing new insights in developing novel anti-NSCLC strategies. (PMID:24971537)
• proliferation was linked to a novel DEPDC1B-Rac1-ERK1/2 signaling axis in oral cancer cell lines. (PMID:25091805)
• Pitx2-mediated repression of Depdc1b expression contributes to the regulation of multiple molecular pathways, such as Rho GTPase signaling. (PMID:25704760)
• Our results demonstrated that increased expression of SDP35/DEPDC1A and XPT1/DEPDC1B correlates with metastatic progression of metastatic soft tissue sarcoma (PMID:29297565)
• DEPDC1B was involved in the development and progression of MM. (PMID:30880030)
• DEPDC1B plays a central role in myoblasts by driving proliferation and preventing precocious myogenic differentiation during skeletal myogenesis in both mouse and human. (PMID:31825138)
• XTP8 stimulates migration and invasion of gastric carcinoma through interacting with TGIF1. (PMID:32196592)
• DEPDC1B is a tumor promotor in development of bladder cancer through targeting SHC1. (PMID:33203836)
• Overexpressed DEPDC1B contributes to the progression of hepatocellular carcinoma by CDK1. (PMID:34032605)
• DEPDC1B regulates the progression of human chordoma through UBE2T-mediated ubiquitination of BIRC5. (PMID:34330893)
• DEP domain containing 1B (DEPDC1B) exerts the tumor promoter in hepatocellular carcinoma through activating p53 signaling pathway via kinesin family member 23 (KIF23). (PMID:34983303)
• DEPDC1B Promotes Melanoma Angiogenesis and Metastasis through Sequestration of Ubiquitin Ligase CDC16 to Stabilize Secreted SCUBE3. (PMID:35088579)
• DEPDC1B promotes colorectal cancer via facilitating cell proliferation and migration while inhibiting apoptosis. (PMID:36016512)
• Aberrantly high DEPDC1B expression leads to poor prognosis in patients with lower-grade gliomas. (PMID:36394729)
• Circ_0005276 Promotes Prostate Cancer Progression Through the Crosstalk of miR-128-3p/DEPDC1B Axis. (PMID:36913076)
• DEPDC1B is involved in the proliferation, metastasis, cell cycle arrest and apoptosis of colon cancer cells by regulating NUP37. (PMID:37203403)
• DEPDC1B-mediated USP5 deubiquitination of beta-catenin promotes breast cancer metastasis by activating the wnt/beta-catenin pathway. (PMID:37642235)
• DEPDC1B enhances malignant phenotypes of multiple myeloma through upregulating CCNB1 and inhibiting p53 signaling pathway. (PMID:37979396)
• ZNF146 regulates cell cycle progression via TFDP1 and DEPDC1B in ovarian cancer cells. (PMID:38614125)
• XTP8 Promotes Ovarian Cancer Progression by Activating AKT/AMPK/mTOR Pathway to Regulate EMT. (PMID:38717641)
• DEPDC1B is a Novel Direct Target of B-Myb and Contributes to Malignant Progression and Immune Infiltration in Lung Adenocarcinoma. (PMID:38940035)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000099541
mus_musculus	Depdc1b	ENSMUSG00000021697
rattus_norvegicus	Depdc1b	ENSRNOG00000010701
caenorhabditis_elegans		WBGENE00002368

Paralogs (3): DEPDC1 (ENSG00000024526), DEPDC7 (ENSG00000121690), DEPDC4 (ENSG00000166153)

Protein

Protein identifiers

DEP domain-containing protein 1B — Q8WUY9 (reviewed: Q8WUY9)

Alternative names: HBV X-transactivated gene 8 protein, HBV XAg-transactivated protein 8

All UniProt accessions (3): D6RDV9, D6RIB0, Q8WUY9

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WUY9-1	1	yes
Q8WUY9-2	2

RefSeq proteins (2): NP_001138680, NP_060839* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR000591	DEP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily

Pfam: PF00610, PF00620

UniProt features (12 total): sequence conflict 3, domain 2, modified residue 2, sequence variant 2, chain 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUY9-F1	77.79	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 231 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (2): 160, 436

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013405	RHOD GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle
R-HSA-9013420	RHOU GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-9013424	RHOV GTPase cycle
R-HSA-9035034	RHOF GTPase cycle
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696270	RND2 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle

MSigDB gene sets: 487 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_RESPONSE_TO_IONIZING_RADIATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_INFLAMMATORY_RESPONSE, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT

GO Biological Process (4): cell migration (GO:0016477), positive regulation of Wnt signaling pathway (GO:0030177), intracellular signal transduction (GO:0035556), signal transduction (GO:0007165)

GO Molecular Function (1): GTPase activator activity (GO:0005096)

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	17

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell motility	1
positive regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
intracellular anatomical structure	1
signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1

Protein interactions and networks

STRING

1610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEPDC1B	NEMP1	O14524	532
DEPDC1B	LMBRD2	Q68DH5	493
DEPDC1B	CCDC150	Q8NCX0	490
DEPDC1B	ZNF367	Q7RTV3	487
DEPDC1B	NCAPH	Q15003	484
DEPDC1B	CCDC77	Q9BR77	474
DEPDC1B	PLEK2	Q9NYT0	473
DEPDC1B	PLEK	P08567	472
DEPDC1B	CCDC34	Q96HJ3	460
DEPDC1B	SACK1D	Q9H4H8	451
DEPDC1B	RAI2	Q9Y5P3	449
DEPDC1B	CEP85	Q6P2H3	446
DEPDC1B	REEP4	Q9H6H4	436
DEPDC1B	GSTCD	Q8NEC7	435
DEPDC1B	AURKB	Q96GD4	434

IntAct

71 interactions, top by confidence:

A	B	Type	Score
CDC23	BUB1B	psi-mi:“MI:0914”(association)	0.790
IFI30	DAPK1	psi-mi:“MI:0914”(association)	0.730
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
IFI30	PRC1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
EBPL	DEPDC1B	psi-mi:“MI:0915”(physical association)	0.370
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
DEPDC1B	XPO1	psi-mi:“MI:0914”(association)	0.350
ARRDC3	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANAPC4	BUB1	psi-mi:“MI:0914”(association)	0.350
DEPDC1B	YWHAE	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
BSCL2	TMEM223	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
BACE2	FAM171A2	psi-mi:“MI:0914”(association)	0.350
ACRBP	MYO9A	psi-mi:“MI:0914”(association)	0.350
TMEM17	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
TCTN2	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
CETN2	DVL1	psi-mi:“MI:2364”(proximity)	0.270
TCTN3	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
LAMP1	TRAPPC13	psi-mi:“MI:2364”(proximity)	0.270
RAB9A	SNAP23	psi-mi:“MI:2364”(proximity)	0.270
TGOLN2	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (217): DEPDC1B (Affinity Capture-MS), DEPDC1B (Proximity Label-MS), DEPDC1B (Proximity Label-MS), DEPDC1B (Proximity Label-MS), DEPDC1B (Proximity Label-MS), DEPDC1B (Affinity Capture-MS), DEPDC1B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), DEPDC1B (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), DEPDC1B (Affinity Capture-MS), DEPDC1B (Affinity Capture-MS), DEPDC1B (Affinity Capture-MS)

ESM2 similar proteins: A0JMF6, A2BGG1, A4D1P6, A6H8H2, A8E7C5, B2RYI0, E9PXF8, O15327, O70167, O70173, O95248, P97874, Q008S8, Q2HJE1, Q2I6J0, Q4R4D7, Q4R623, Q5PQS3, Q5R6T6, Q5R991, Q5RA60, Q5U581, Q5VZ89, Q5ZLD2, Q5ZLL7, Q63406, Q64096, Q6DIR8, Q6NTN5, Q6NU08, Q6P1Y8, Q6TEN6, Q6ZPE2, Q7TMQ7, Q7TPM9, Q7Z401, Q7ZXF1, Q803E0, Q80U56, Q86WG5

Diamond homologs: Q4R623, Q5TB30, Q5ZLD2, Q6ING4, Q803Q4, Q8BH88, Q8CIG0, Q8WUY9, Q8N2C3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional and post-translational regulation of MITF-M expression and activity	5	17.2×	1e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	14.8×	2e-04
Cell Cycle Checkpoints	8	13.6×	8e-06
Anchoring of the basal body to the plasma membrane	6	13.1×	9e-05
RAB GEFs exchange GTP for GDP on RABs	5	11.9×	3e-04
MITF-M-regulated melanocyte development	5	11.0×	5e-04
RHO GTPase Effectors	8	10.5×	2e-05
RHO GTPase cycle	8	9.2×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

107 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	0
Uncertain significance	83
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	Pathogenic
1706518	GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1	Pathogenic
2672303	Single allele	Pathogenic
3906905	GRCh37/hg19 5q12.1(chr5:59989844-60171391)x1	Pathogenic
3906907	GRCh37/hg19 5q12.1(chr5:59989844-60171937)x1	Pathogenic
3906910	GRCh37/hg19 5q12.1(chr5:59993268-60171937)x1	Pathogenic

SpliceAI

1819 predictions. Top by Δscore:

Variant	Effect	Δscore
5:60599069:TTTTA:T	donor_loss	1.0000
5:60599070:TTTA:T	donor_loss	1.0000
5:60599071:TTAC:T	donor_loss	1.0000
5:60599072:TA:T	donor_loss	1.0000
5:60599074:C:CT	donor_loss	1.0000
5:60599074:CCTG:C	donor_gain	1.0000
5:60603385:CTTTA:C	donor_loss	1.0000
5:60603390:CC:C	donor_loss	1.0000
5:60642810:A:AC	donor_gain	1.0000
5:60642811:C:CC	donor_gain	1.0000
5:60642860:C:CC	acceptor_gain	1.0000
5:60644741:TTACT:T	donor_loss	1.0000
5:60644742:TACTT:T	donor_loss	1.0000
5:60644743:A:AC	donor_gain	1.0000
5:60644743:ACTT:A	donor_loss	1.0000
5:60644744:C:CA	donor_gain	1.0000
5:60644744:CT:C	donor_gain	1.0000
5:60644744:CTT:C	donor_gain	1.0000
5:60644744:CTTG:C	donor_gain	1.0000
5:60644744:CTTGA:C	donor_gain	1.0000
5:60644746:TG:T	donor_gain	1.0000
5:60644771:C:CA	donor_gain	1.0000
5:60644871:GTAAG:G	acceptor_gain	1.0000
5:60644872:TAAG:T	acceptor_gain	1.0000
5:60644873:AAG:A	acceptor_gain	1.0000
5:60644874:AG:A	acceptor_gain	1.0000
5:60644876:C:CC	acceptor_gain	1.0000
5:60645490:A:AC	donor_gain	1.0000
5:60645491:C:CC	donor_gain	1.0000
5:60645511:T:TA	donor_gain	1.0000

AlphaMissense

3483 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:60638847:A:C	F267L	0.999
5:60638847:A:T	F267L	0.999
5:60638849:A:G	F267L	0.999
5:60642832:G:T	A246D	0.999
5:60642843:C:A	W242C	0.999
5:60642843:C:G	W242C	0.999
5:60642845:A:G	W242R	0.999
5:60642845:A:T	W242R	0.999
5:60687025:A:T	V84D	0.999
5:60687049:A:G	L76P	0.999
5:60687052:A:G	L75P	0.999
5:60687145:A:G	F44S	0.999
5:60687225:C:A	W17C	0.999
5:60687225:C:G	W17C	0.999
5:60687227:A:G	W17R	0.999
5:60687227:A:T	W17R	0.999
5:60597913:A:G	F477S	0.998
5:60638836:A:T	V271D	0.998
5:60642820:A:G	L250S	0.998
5:60686966:A:C	Y104D	0.998
5:60687022:A:T	I85N	0.998
5:60687040:A:G	F79S	0.998
5:60687118:A:G	L53P	0.998
5:60687131:C:G	A49P	0.998
5:60687226:C:G	W17S	0.998
5:60700047:A:G	L16P	0.998
5:60638824:A:T	I275K	0.997
5:60642812:A:G	W253R	0.997
5:60642812:A:T	W253R	0.997
5:60642833:C:G	A246P	0.997

dbSNP variants (sampled 300 via entrez): RS1000096413 (5:60640702 T>A,C), RS1000151928 (5:60663871 A>G), RS1000193614 (5:60666692 G>T), RS1000205606 (5:60623449 T>C), RS1000224463 (5:60616032 G>A,C,T), RS1000230897 (5:60666856 AG>A), RS1000240166 (5:60633754 C>T), RS1000252486 (5:60627137 G>A), RS1000299168 (5:60612119 C>T), RS1000302870 (5:60630356 G>A), RS1000305058 (5:60675213 C>T), RS1000306715 (5:60673442 G>A), RS1000346455 (5:60661951 C>G,T), RS1000349806 (5:60689416 A>G), RS1000361996 (5:60681436 T>C)

Disease associations

OMIM: gene MIM:616073 | disease phenotypes: MIM:216400

GenCC curated gene-disease

Mondo (1): Cockayne syndrome type 1 (MONDO:0019569)

Orphanet (2): Cockayne syndrome (Orphanet:191), Cockayne syndrome type 1 (Orphanet:90321)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004521_137	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_26	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST005316_574	Intelligence (MTAG)	3.000000e-10
GCST009391_817	Metabolite levels	3.000000e-09
GCST009391_818	Metabolite levels	1.000000e-08
GCST010701_32	Cortical surface area (MOSTest)	2.000000e-29
GCST010702_115	Subcortical volume (MOSTest)	2.000000e-09
GCST010703_98	Brain morphology (MOSTest)	5.000000e-41

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0010398	sphingomyelin 24:1 measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

76 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	3
Cyclosporine	decreases expression	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment	3
Air Pollutants	decreases expression, increases abundance	2
Quercetin	decreases expression, increases phosphorylation	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
urushiol	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
sodium arsenate	increases abundance, increases expression	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
diallyl trisulfide	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
azoxystrobin	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
deguelin	increases expression	1
fenpyroximate	increases expression	1
pyrimidifen	increases expression	1
thifluzamide	increases expression	1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06009965	PHASE4	UNKNOWN	Efficacy of IST Combined With TPO-RA in the Treatment of AA and Establishment of a Recurrence Prediction System